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Alagille syndrome due to a JAG1 point mutation

ORPHA261619
Synonym(s) Alagille-Watson syndrome due to a JAG1 point mutation
Arteriohepatic dysplasia due to a JAG1 point mutation
Syndromic bile duct paucity due to a JAG1 point mutation
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q44.7
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This disease is described under Alagille syndrome


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Detailed information

Guidance for genetic testing
  • EN (2013,pdf)
Article for general public
  • EN (2014)
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